Canonical Allele Identifier: CA393995985
Gene: HBA1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr16:g.227366T>A (hg19) chr16:g.177367T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000016.10:g.177367T>A , CM000678.2:g.177367T>A GRCh38
NC_000016.9:g.227366T>A , CM000678.1:g.227366T>A GRCh37
NC_000016.8:g.167366T>A NCBI36
NG_000006.1:g.38230T>A
NG_059186.1:g.5717T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000320868.9:c.385T>A MANE Select ENSP00000322421.5:p.Phe129Ile
ENST00000397797.1:c.289T>A ENSP00000380899.1:p.Phe97Ile
ENST00000472694.1:n.521T>A
NM_000558.4:c.385T>A NP_000549.1:p.Phe129Ile
NM_000558.5:c.385T>A MANE Select NP_000549.1:p.Phe129Ile
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